A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab

被引：9

作者：

Nozawa, Akifumi ^{[1
]}

Ozeki, Michio ^{[1
]}

Hori, Tomohiro ^{[1
]}

Kawamoto, Norio ^{[1
]}

Hirayama, Masahiro ^{[2
]}

Azuma, Eiichi ^{[2
,3
]}

Fukao, Toshiyuki ^{[1
]}

机构：

[1] Gifu Univ, Dept Pediat, Grad Sch Med, Yanagido 1-1, Gifu 5011194, Japan

[2] Mie Univ, Dept Pediat, Grad Sch Med, Tsu, Mie, Japan

[3] Mie Univ, Dept Pediat & Cell Transplantat, Grad Sch Med, Tsu, Mie, Japan

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2018年 / 40卷 / 08期

关键词：

eculizumab; neuroblastoma; atypical hemolytic uremic syndrome; autologous hematopoietic stem cell transplantation; complement system; STEM-CELL TRANSPLANTATION; HEMOLYTIC-UREMIC SYNDROME; CHILDREN; NEUROBLASTOMA; COMPLEMENT; DIAGNOSIS;

D O I：

10.1097/MPH.0000000000000986

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Complement system dysregulation, such as complement Factor H (CFH) autoantibodies and deletions in CFH-related (CFHR) genes 3 and 1, might cause transplant-associated thrombotic microangiopathy (TA-TMA). The use of eculizumab, a terminal complement inhibitor, could be a targeted therapy for TA-TMA. We report a 1-year-old girl who developed TA-TMA, just after autologous peripheral blood stem cell transplantation in neuroblastoma therapy. Eculizumab improved TA-TMA. Investigation for the complement alternative pathway showed a heterozygous CFHR3-CFHR1 gene deletion, which is involved in complement activation. The patient might develop TA-TMA as a result of complement regulatory gene mutation.

引用

页码：e544 / e546

页数：3

共 17 条

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